The vitamin B status of infants depends on maternal B status during pregnancy, and during lactation if breastfed. We present a 9-month-old girl who was admitted to the metabolic unit for assessment of developmental delay. She was exclusively breastfed and the introduction of solids at 5 months was unsuccessful. Investigations revealed pancytopenia, undetectable B and highly elevated methylmalonic acid and homocysteine. Methylmalonic acid and homocysteine normalised following B injections. Marked catch-up of developmental milestones was noted after treatment with B. Investigations of parents showed normal B in the father and combined B and iron deficiency in the mother. Maternal B deficiency, most likely masked by iron deficiency, led to severe B deficiency in the infant. Exclusive breastfeeding and a subsequent failure to wean exacerbated the infant's B deficiency leading to developmental delay. This case highlights the need for development of guidelines for better assessment of B status during pregnancy.

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http://dx.doi.org/10.1038/ejcn.2017.85DOI Listing

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